{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T11:53:05Z","timestamp":1785498785543,"version":"3.56.0"},"reference-count":13,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T00:00:00Z","timestamp":1719446400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RC-2024-2789983"],"award-info":[{"award-number":["RC-2024-2789983"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Aims<\/jats:title>\n                  <jats:p>The Italian Fabry Disease Cardiovascular Registry (IFDCR) comprises 50 Italian centres with specific expertise in managing cardiovascular manifestations and complications of patients with Fabry disease (FD). The primary aim of the IFDCR is to examine and improve the clinical care and outcomes of patients with FD by addressing several knowledge gaps in the epidemiology, natural history, genotype\u2013phenotype correlations, diagnosis, and management of this condition, with particular focus on cardiovascular manifestations and complications.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and Results<\/jats:title>\n                  <jats:p>The IFDCR is an international, longitudinal, multicentre, non-interventional, observational study. Consecutive patients aged\u00a0\u22652 years with a diagnosis of FD will be included in the study. The recruitment period consists of two parts: the retrospective enrolment period, from January 1981 to December 2023, and the prospective enrolment period, spanning from January 2024 to December 2031. The registry collects baseline and follow-up data, including the enrolment setting, patient demographics, family history, symptoms, clinical manifestations, electrocardiogram, cardiovascular imaging, laboratory assessment, medical therapy, genetic testing results, and outcomes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The IFDCR is a national, multicentre, registry that includes patients with FD. It holds detailed and multiparametric data across the patient pathway and clinical manifestations, acting as a powerful tool for improving the quality of care and conducting high-impact research.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjqcco\/qcae052","type":"journal-article","created":{"date-parts":[[2024,6,26]],"date-time":"2024-06-26T07:06:18Z","timestamp":1719385578000},"page":"483-487","source":"Crossref","is-referenced-by-count":5,"title":["The Italian Fabry Disease Cardiovascular Registry (IFDCR)"],"prefix":"10.1093","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8291-9517","authenticated-orcid":false,"given":"Giuseppe","family":"Limongelli","sequence":"first","affiliation":[{"name":"Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania \u2018Luigi Vanvitelli\u2019, Monaldi Hospital , Naples 80131 , Italy"},{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart , Naples 80131, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0295-0440","authenticated-orcid":false,"given":"Elena","family":"Biagini","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart , Naples 80131, Italy"},{"name":"Cardiology Unit, IRCCS Azienda Ospedaliero-Universitaria of Bologna , Bologna 40100 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Cappelli","sequence":"additional","affiliation":[{"name":"Cardiomyopathy Unit, Careggi University Hospital, University of Florence , Florence 50100 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Graziani","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart , Naples 80131, Italy"},{"name":"Department of Cardiovascular Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS , Rome 00042 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Monda","sequence":"additional","affiliation":[{"name":"Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania \u2018Luigi Vanvitelli\u2019, Monaldi Hospital , Naples 80131 , Italy"},{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart , Naples 80131, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1751-9266","authenticated-orcid":false,"given":"Iacopo","family":"Olivotto","sequence":"additional","affiliation":[{"name":"Cardiology Unit, IRCCS Meyer Children's Hospital , Florence 50100 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanda","family":"Parisi","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of 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